ClinVar Miner

List of variants in gene KDM5C studied for X-linked disease

Included ClinVar conditions (275):
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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238 0.00001
NM_004187.5(KDM5C):c.2517-7T>G rs1556838825 0.00001
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr) rs1392496114 0.00001
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met) rs782205045 0.00001
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp) rs370060257 0.00001
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu) rs1556832824 0.00001
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu) rs1556832305 0.00001
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys) rs1245355138 0.00001
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys) rs1556852786 0.00001
NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu) rs2073736194 0.00001
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu) rs1428740468 0.00001
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln) rs137861376 0.00001
NM_004187.5(KDM5C):c.*129C>T rs1602156447
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_004187.5(KDM5C):c.1243-3C>T
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
NM_004187.5(KDM5C):c.12dup (p.Ser5fs) rs2146978931
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) rs2073559814
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs) rs2146919819
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs) rs2146915836
NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe) rs2146915737
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.5(KDM5C):c.1583+5G>T rs2073531540
NM_004187.5(KDM5C):c.1586G>C (p.Gly529Ala) rs2146914851
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys) rs2146914735
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
NM_004187.5(KDM5C):c.1681C>G (p.Pro561Ala) rs2146914266
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val) rs2073151214
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe) rs2146868023
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly) rs2146867887
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter) rs2146961698
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter) rs2146852767
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
NM_004187.5(KDM5C):c.2243+1G>T rs2073058023
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.2474G>A (p.Cys825Tyr)
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.2517-15T>A
NM_004187.5(KDM5C):c.2517_2622del rs2146844343
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004187.5(KDM5C):c.2622+2dup rs1057519393
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp) rs2146840102
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr) rs2146839898
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val) rs2073805082
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln) rs1556837428
NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter) rs2146837810
NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp) rs2146833113
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs) rs1934751829
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) rs1934728804
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter) rs1934722562
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala) rs2146951019
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu) rs2146821316
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter) rs1934657828
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del) rs2146819410
NM_004187.5(KDM5C):c.4118-2A>G rs2146815883
NM_004187.5(KDM5C):c.4118-9A>G
NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)
NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs) rs1060499661
NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu) rs782081983
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter) rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg) rs2146934832

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